Tim Lockney. What is p57?  Alias: CDKN1C  316 Amino Acids long  Localized in the Nucleus  Important during development  Localized to Chromosome 11p15.5.

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Presentation transcript:

Tim Lockney

What is p57?  Alias: CDKN1C  316 Amino Acids long  Localized in the Nucleus  Important during development  Localized to Chromosome 11p15.5 Matsuoka et al.

What type of protein is p57?  CDK-inhibitor  p21 Family ? ?  Cip/Kip = CDK interacting protein/Kinase inhibitory protein content/photos/Face_of_RPI___que stion_mark.gif Duronio, B.

p57 Function  Negative regulator of cell cycle  Tumor Suppressor! Mainprize, T.G. et al.

p57 Function  Also involved in differentiation  Can act as a transcription factor  MyoD keeps myocyte a myocyte Besson, A. et al.

p57 Function Summary  Tumor Suppressor  Over expression = G1 arrest  Can bind to Proliferating Cell Nuclear Antigen (PCNA), a DNA polymerase Sigma processivity factor, via its C terminus (aa 143–160), thereby blocking processive DNA synthesis  Differentiation  Also involved in cytoskeletal dynamics and apoptosis, but involvement remains unclear.

What is Beckwith-Wiedemann Syndrome?  1-13,000 or 1-15,000 wiedemannsyndrome.org/graphics/uploadfile/1276/dia_0025a_.jpg COHEN JR., M.M.

BWS Tumors Cohen Jr., M.M. s/ency/fullsize/9056.jpg&imgrefurl= htm&h=320&w=400&sz=11&hl=en&start=1&um=1&tbnid=9gfxNPL- LdXZGM:&tbnh=99&tbnw=124&prev=/images%3Fq%3Dwilm%2527s%2Btumor%26um %3D1%26hl%3Den%26safe%3Doff%26client%3Dfirefox-a%26rls%3Dorg.mozilla:en- US:official%26sa%3DN Zhang, P. et al.

Connecting BWS with p57  Knockout mice Zhang, P. et al. Mainprize, T.G. et al.

Knockout Mice Continued  Similarities Zhang, P. et al. host.org/graphics/uploadfile/1276/omphalocele_.jpg

How does p57 cause BWS?  Imprinting: complex genetics  “A process that causes genes to be expressed according to their parental origin,”  Affects ~1000 human genes The ones important for development  p57 is an imprinted gene.

How does imprinting work?  Methylation  Histone Acetylation (chromatin modeling)

Imprinting and BWS  Normally Maternal p57 is expressed  Methylation is the main control  Methylation is green light Uses methyl binding transcription factors

LOI  LOI can occur via LOH  LOM  Or even a bad gene Izuho Hatada et al. K. Higashimoto et al.

Hatada I. et al.

Questions?